| ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000262999 |
| Start |
140563451:140563451(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.393G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
stop_gained;splice_region_variant |
| Transcription ID |
ENST00000262999 |
| Start |
140560008:140560008(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.812T>A |
| AA Mutation |
p.Leu271Ter(p.L271*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000262999 |
| Start |
140567978:140567978(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.127-1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |